Canonical Allele Identifier: CA2753571871
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003910A>T , CM000664.2:g.189003910A>T GRCh38
NC_000002.11:g.189868636A>T , CM000664.1:g.189868636A>T GRCh37
NC_000002.10:g.189576881A>T NCBI36
NG_007404.1:g.34538A>T , LRG_3:g.34538A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2563-72A>T ENSP00000415346.2:n.2563-72A>T
ENST00000304636.9:c.2662-72A>T MANE Select ENSP00000304408.4:n.2662-72A>T
ENST00000304636.7:c.2662-72A>T ENSP00000304408.3:n.2662-72A>T
ENST00000317840.9:c.2527+874A>T ENSP00000315243.6:n.2527+874A>T
ENST00000467886.1:n.219A>T
NM_000090.3:c.2662-72A>T , LRG_3t1:c.2662-72A>T NP_000081.1:n.2662-72A>T
NM_000090.4:c.2662-72A>T MANE Select NP_000081.2:n.2662-72A>T